IllnessTSC2/PKD1 microdeletion syndrome

Summary

Short information

Array diagnostics (or two curated single gene sequence analyses) according to the clinical suspicion TSC2/PKD1 microdeletion syndrome

TP0390

Number of genes

2 Accredited laboratory test

Examined sequence length

18,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

ARR

[NGS +]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
PKD1	12912	601313	NM_001009944.3	AR, AD
TSC2	5424	191092	NM_000548.5	AD

Informations about the disease

Clinical Comment

PKD-TSC: early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)

Synonyms

AD polycystic kidney disease type 1 with tuberous sclerosis
PKD + tuberous sclerosis (TSC2)

Heredity, heredity patterns etc.

OMIM-Ps

601313

ICD10 Code

Q61.3

Bioinformatics and clinical interpretation

No text defined